X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | |
| fr | Syndrome lié à l'X de microcéphalie-retard de croissance-prognathisme-cryptorchidie | |
| de | X-chromosomale Mikrozephalie-Wachstumsverzögerung-Prognathie-Kryptorchismus-Syndrom | |
| es | Síndrome de microcefalia-retraso del crecimiento-prognatismo-criptorquidia ligado al cromosoma X | |
| it | Sindrome da microcefalia, ritardo della crescita, prognatismo e criptorchidismo legata all' X | |
| nl | X-gebonden microcefalie - groeiretardatie - prognathie - cryptorchidie-syndroom | |
| pt | Síndrome de microcefalia atraso no crescimento prognatismo criptorquidia, ligada ao cromossoma X | |
| pl | Zespół małogłowia sprzężonego z chromosomem X, opóźnienia wzrostu, prognatyzmu i wnętrostwa | |
| cs | Syndrom zahrnující X-vázanou mikrocefalii, růstovou retardaci, prognácii a kryptorchismus | |
| uk | Синдром Х-зчепленої мікроцефалії-затримки росту-прогнатизму-крипторхізму | |
| zh | X连锁遗传性小头畸形-发育迟缓-下颌前突-隐睾综合征 | |
| tr | X'e bağlı mikrosefali-büyüme geriliği-öne çıkık çene-kriptorşidi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300998 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0018569 | E | validated | |
| UMLS | C5681178 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RPL10 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10298 | ENSG00000147403 | 312173 | Xq28 | ribosomal protein L10 | 25316788[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 25316788[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25316788[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
25 annotations · validated 2016-11-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000028 | Cryptorchidism | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001252 | Hypotonia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0002719 | Recurrent infections | |
| HP:0001250 | Seizure | |
| HP:0008850 | Severe postnatal growth retardation | |
| Frequent (79-30%) | ||
| HP:0006466 | Ankle flexion contracture | |
| HP:0009796 | Branchial cyst | |
| HP:0012385 | Camptodactyly | |
| HP:0000678 | Dental crowding | |
| HP:0006101 | Finger syndactyly | |
| HP:0000047 | Hypospadias | |
| HP:0006380 | Knee flexion contracture | |
| HP:0001601 | Laryngomalacia | |
| HP:0000411 | Protruding ear | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0012033 | Sacral lipoma | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001182 | Tapered finger | |
| HP:0000219 | Thin upper lip vermilion | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 25316788[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435938
- This record as JSON: /data/d/435938.json